{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T04:47:09Z","timestamp":1789879629920,"version":"4.0.1"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T00:00:00Z","timestamp":1519171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005897","name":"Soci\u00e9t\u00e9 Fran\u00e7aise de Dermatologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic predisposition to cutaneous malignant melanoma (CMM) involves highly penetrant predisposing genes and low and intermediate penetrant predisposing alleles. However, the missing heritability in (CMM) is still high. For such and in order to identify new genetic factors for CMM, we conducted an exome sequencing study in high\u2010risk CMM patients. Two rounds of exome sequencing were successively performed in 33 and 27 high\u2010risk patients. We focused on genes carrying rare nonsense, frameshift, and splice variants (allelic frequency &lt;1%) that were present in both series of exomes. An extension study was then conducted in a large cohort (1\u00a0079 CMM patients and 1\u00a0230 Caucasian ethnically matched healthy controls), and the inactivating variants frequency was compared between groups using two\u2010sided Fisher exact test. Two <jats:italic>TP53AIP1<\/jats:italic> truncating mutations were identified in four patients: a frameshift c.63_64insG, p.Q22Afs*81 in two patients from the same family and in the proband of a second family; and a nonsense mutation c.95 C\u2009&gt;\u2009A, p.Ser32Stop in a patient with multiple CMMs. In all patients, <jats:italic>TP53AIP1<\/jats:italic> truncating variants were strongly associated with CMM risk (two\u2010sided Fisher exact test\u2009=\u20090.004, OR\u2009=\u20093.3[1.3\u20108.5]). Additionally, we showed that <jats:italic>TP53AIP1<\/jats:italic> mRNA was strongly down\u2010regulated throughout different phases of melanoma progression. <jats:italic>TP53AIP1<\/jats:italic> gene is a <jats:italic>TP53<\/jats:italic> target which plays a key role by inducting apoptosis in response to UV\u2010induced DNA damage. Constitutional mutations of <jats:italic>TP53AIP1<\/jats:italic> had previously been involved in susceptibility to prostate cancer. Our results show that constitutional truncating <jats:italic>TP53AIP1<\/jats:italic> mutations predispose to CMM in the French population. Replication studies in other populations should be performed.<\/jats:p>","DOI":"10.1002\/gcc.22528","type":"journal-article","created":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T07:36:44Z","timestamp":1516693004000},"page":"294-303","source":"Crossref","is-referenced-by-count":12,"title":["Truncating mutations of <i>TP53AIP1<\/i> gene predispose to cutaneous melanoma"],"prefix":"10.1002","volume":"57","author":[{"given":"Meriem","family":"Benfodda","sequence":"first","affiliation":[{"name":"INSERM U976, Centre de Recherche sur la Peau H\u00f4pital Saint Louis 75010 Paris France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Bichat Claude Bernard, APHP 75018 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Gazal","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9 75005 Paris France"},{"name":"UMR S 738 Facult\u00e9 de M\u00e9decine Xavier Bichat 75018 Paris 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